HsaINT0131703 @ hg38
Intron Retention
Gene
ENSG00000130589 | HELZ2
Description
helicase with zinc finger 2 [Source:HGNC Symbol;Acc:HGNC:30021]
Coordinates
chr20:63562072-63562382:-
Coord C1 exon
chr20:63562288-63562382
Coord A exon
chr20:63562204-63562287
Coord C2 exon
chr20:63562072-63562203
Length
84 bp
Sequences
Splice sites
5' ss Seq
GAGGTAGGT
5' ss Score
9.65
3' ss Seq
GGGAGGCTGCCCCCTCTCAGTGA
3' ss Score
2.87
Exon sequences
Seq C1 exon
CCGCAAGGAGGAAGCCGTGCGTGGACTAGAGGAGGCGTCCCCGCTGGTCACCAGCATCGCACTGGGCCGGCCTGTCCCGCAGCCCCTCTGCAGAG
Seq A exon
GTAGGTCTGCCCCACCCCTCCAGCTTCCCCTCTGGCCCCCAGCCCCACCCTGCATGAGTGCTCAGGGAGGCTGCCCCCTCTCAG
Seq C2 exon
TGATCCCCAGCAGGTTCCTGGAGCGGCAGACCTACAACATCCCCGGAGGCCGCCACAAGCTGAACCCCAGCCAGAACGTGGCGGTCAGGGAGGCTCTGGAGAAGCCTTTCACGGTCATTCAGGGCCCACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130589:ENST00000427522:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.182 A=NA C2=0.378
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF130861=AAA_11=PU(10.1=55.6)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGGACTAGAGGAGGCGTCC
R:
CTTCTCCAGAGCCTCCCTGAC
Band lengths:
179-263
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains